Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001237934 | SCV001410725 | uncertain significance | Tuberous sclerosis 1 | 2020-08-25 | criteria provided, single submitter | clinical testing | This sequence change affects codon 169 of the TSC1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TSC1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TSC1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Baylor Genetics | RCV003473816 | SCV004204461 | uncertain significance | Isolated focal cortical dysplasia type II | 2023-07-03 | criteria provided, single submitter | clinical testing |